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Autosomal Recessive Adolescent Syndromic Nephronophthisis Caused by a Novel Compound Heterozygous Pathogenic Variant

Patient: Female, 19-year-old Final Diagnosis: Nephronophthisis Symptoms: Fatigue • poor appetite Clinical Procedure: — Specialty: Genetics • Nephrology OBJECTIVE: Rare disease BACKGROUND: Nephronophthisis, an autosomal recessive ciliopathy involving mutations in primary cilium genes, is characterize...

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Detalles Bibliográficos
Autores principales:	Ajiboye, Oyintayo, Vengoechea, Jaime E., Gupta, Ritu, Lomashvili, Koba
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	International Scientific Literature, Inc. 2023
Materias:	Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10681955/ https://www.ncbi.nlm.nih.gov/pubmed/37992003 http://dx.doi.org/10.12659/AJCR.941413

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